High risk screening - Normal NT but high hCG, Low PAPP-A

[SoozyWoozy]

Hello everyone,
I'm new to this board, so apologies if I'm posting in the wrong place!

I'm 13w pregnant with my 4th baby (6th pregnancy, first two were ectopic & mc). My other pregnancies went without a hitch, other than the dreaded SPD.

With the other 3 I just had a Nuchal as screening, and all were very low risk. My hospital now does combined screening so this time I had bloods done as well. My scan was apparently OK and the Nuchal measurement was within normal range but my bloods made me high risk with a 1:78 chance of a baby with Downs / other Trisomies. My BhCG was double what it should be and my PAPP-A was half, apparently can be an indication of trisomies, but even with no chromosome problems this can lead to other problems in pregnancy such as IUGR, preeclampsia to mention just a couple!

I guess what I would like to know is this - has anyone been in a similar situation and come out the other side?! I have an amnio booked for 16w, but the waiting is driving me crazy and giving me too much time to think about the what ifs and if I am doing the right thing having the amnio at all!

Any words of wisdom would be gratefully received.

Suzy

@Mummy825 what is it you would like me to “stop”? Stop being honest? Stop supporting people who are being alienated and marginalised by these echo chamber groups that can apparently not think critically?

I have every empathy for people who are genuinely facing tough times with their pregnancies.

I will readily state that NIPT is a very sensitive screening test which has a clear context in risk management - from what I can tell and have stated, generally suited to your circumstances.

I can also say CVS is flawed and NHS Screening is flawed. In fact all prenatal testing is inherently flawed. None can provide us certainty.

Over the last year and a half, I have been approached by multiple people who have been caused undue distress by prenatal testing. More and more NIPT is becoming pertinent within those discussions. Maybe because it is a newer test, and only just becoming integrated into NHS protocol - having previously been solely administered by private providers.

As stated I see it as a positive that NIPT is now being better integrated and oversight provided by NHS.

To be clear regarding typical examples of harm I have heard multiple times:

1. young mum-to-be told to get NIPT as everyone is doing it and it is really accurate. Gets told at 10 weeks pregnant that Trisomy 18 has been detected and test is 99% accurate in deeming baby “incompatible with life”. She cannot get amniocentesis until 18 weeks for obstetric reasons. Finds out at 20 weeks that baby seems to be in perfect health. Has perfectly healthy pregnancy and baby, but has months of unnecessary worry. Later finds out that roughly 2/3 NIPT positive detections for trisomy 18 are false alarms. But everyone around her raves about the accuracy and how reassuring the test is...

2. couple told NIPT can tell them at 10 weeks their pregnancy is viable and will be fun as they get an early gender reveal. Get negative NIPT but then suffer pregnancy loss at 18 weeks due to concerns picked up unrelated to main trisomies. Couple are devastated as told the NIPT meant they had a healthy pregnancy. It wasn’t explained that NIPT has limitations and only assesses for 3 main trisomies.

Of the people I have supported recently, the above are fairly routine examples of where people feel let down by how NIPT is promoted. However there are other circumstances - and NIPT isn’t the only issue as I have stated.

I think it is very telling that I basically avoided these forums for a year because sharing examples like this was deemed offensive. Yet people have contacted me feeling groups that promote NIPT even in the absence of risk factors or appropriate risk management, hurt them. This is NOT your circumstances, so if you are taking my comments as an attack, then you are missing the context.

By nature of screening tests, those negatively impacted will always be a minority, but that doesn’t make them less important. Just as in the majority of cases NHS Screening has been beneficial. We have a changing demographic and more women are having children at an advanced age, meaning tests like NIPT can be more relevant in such circumstances.

Just as statistically speaking NHS Screening can cause distress, NIPT can do to. You should generally feel reassured by a low risk NIPT result. However no prenatal tests are an exact science - even invasive tests such as CVS and amniocentesis.

This particular thread really isn't the appropriate place to be discussing personal opinions on NIPT and its accuracy. As far as I can tell everyone here has received a high chance result from NHS screening therefore talking about its inaccuracy in the general population really isn't relevant. I as I am sure everyone on here is fully aware that it is a screening test only which we have all consented too knowing its accuracy and limitations. Regardless of the info you have provided on amniocentesis and its misconceptions the information your provided with when faced with making an informed decision is that there is a risk to your baby all be it small that most people on here have chosen not to take.

Ladies please try not to stress, if you have recieved a low risk NIPT. Let's all try and enjoy the rest of our pregnancies 💕

@Neuronurse27 Actually I started commenting when you advocated that having the NHS Screening was unhelpful in your opinion. My comments were borne in highlighting that a high risk NHS Screening increases accuracy for NIPT significantly - which it does.

I did think that sharing this information was helpful and actually would reassure people who might have these negative associations - and add credibility to the NIPT. I know educating myself on these issues and challenging my own biases has been helpful for me personally.

Sadly I can see my intentions are being misconstrued.

The key word there was opinion. I wouldnt have it again however I would also never suggest that people do or do not have it. I also never advocated or even suggested the use of NIPT on its own as it is not my place to do and I don't have the knowledge behind me to do so and unless you are an experienced health professional in that area then neither do you or anyone else?

People come here for reassurance after recieving potentially life changing results for them and there baby. I am sure there are threads out there dedicated to discussing various screenings and invasive diagnostic procedures and I just don't think this thread with a lot of emotional vulnerable mums is the right place to do it regardless of intentions.

@Neuronurse27 yes you gave an opinion which I said I respect in those initial messages; whilst also providing references to scientific journals that I thought might help and reassure. Opinions and feelings may change, but we can all be better informed by sharing the science.

It is not my place (or anyone else’s) to tell anyone what they can or cannot do. But it is factual in terms of the evidence, that targeted use of NIPT for higher risk populations increases accuracy. This is where both NHS and NIPT Screening can compliment each other.

I cannot tell anyone what to do, I have not told anyone what to do; nor do I have any desire to do so. However I can make people aware of circumstances that may make screening more accurate. I would’ve thought most people would benefit from this information being shared to minimise the likelihood negative experiences for people moving forward - or take reassurance in the route they have chosen.

I think the problem here is that Sarah clearly understands all the nuances of the statistics around NIPT testing but lots of people aren't that scientifically minded, so all the complicated explanations are causing more anxiety.

If you have received a negative result from NIPT/harmony test, it is really VERY highly likely to be fine. If your baby had any of the three trisomies, it pretty much would have found it. It's only positive NIPT results that can be less accurate, particularly for Edward's and Patau's. Meaning if you get a positive from the NIPT, you should check the result with further testing.

@i3ubble

I think the problem here is that Sarah clearly understands all the nuances of the statistics around NIPT testing but lots of people aren't that scientifically minded, so all the complicated explanations are causing more anxiety.

If you have received a negative result from NIPT/harmony test, it is really VERY highly likely to be fine. If your baby had any of the three trisomies, it pretty much would have found it. It's only positive NIPT results that can be less accurate, particularly for Edward's and Patau's. Meaning if you get a positive from the NIPT, you should check the result with further testing.

Better way to explain it, Thank you 🙏🏻

Thank you @hols86

@i3ubble I really struggle with the fact that this very basic/fundamental understanding is not entirely embedded across practitioners and those taking the test tbh.

The main query that seems to confuse people is the concept of sub groups and varied NIPT test accuracy across these sub groups- which is actually a slightly different matter.

The point I was making is that the test is less accurate when used across the general population (i.e. lower risk individuals) compared to higher risk groups. Hence people say they would not have the NHS Screening as NIPT is more accurate. Whilst the NIPT is a very sensitive test, the test is more limited when not used in a “high risk” context.

If “low risk” groups take the test they are far more likely to experience “false positives” through NIPT than “high risk” groups. However as NIPT has gained momentum, few people realise this and more “low risk” individuals are taking the test.

A worry some have brought forward is that the above could actually result in more unnecessary invasive tests due to false positives (which could be minimised through complimentary NHS Screening); although ironically I think the hope has been that NIPT would reduce invasive testing... If used for “high risk” groups as discussed on this thread, this could reduce need for invasive testing.

As you say, it is fairly complex science and difficult to explain, particularly if people are not scientifically minded. I’m hoping I’m not confusing people more. I had wanted to reassure

@i3ubble Thank you for your reassurance

Hi, just bringing this back to original intent of this thread, I'm currently anxiously waiting on results of my Harmony/Iona NIPT test done today. I am 41, its an ivf pregnancy and have a high risk DS result from NHS combined test... 1:24 risk! (Other 2 trisomies low risk)

My results on combined test were
2.5mm NT
0.49 MoM Papp A
1.68 MoM Bchg

My numbers don't seem awful but could be my age...
I've had quite a few scans due to my history and all have been fine, at 12 week scan I was 13w,2d and CRL 70.8mm. I've had an ectopic in 2019 which was dreadful. Anyone with NHS similar results and good NIPT news?! Thanks all, everyone here is giving me lots of hope ❤

Hi there. My numbers were much worse than yours at age 33, NT 1.24MOM (I'm not sure what the actual measurement was but definitely 2 point something), PAPP-A 0.39MOM, hCG 4.65MOM, and I was given a 1:7 chance of Down's syndrome. We went ahead with the Harmony test and happily were given a very low risk for all trisomies, and my daughter is fine. I was anxious throughout the pregnancy because low PAPP-A can be linked to placenta issues but I went in to labour about 10 days early and had her 8 days before my due date, a healthy 7lb 14. I wish you the absolute best of luck, the waiting is awful.

Hi! Your results really don't seem bad to me. Your papp A is a tiny bit below borderline, hcg is barely above average and your NT is within the normal range too! I had 2.7 for NT, 0.78 for papp A and 3.2 for hcg and my NIPT came back negative. I can say to you don't worry and take your mind off it. But during that week wait all I could do was research research research. This made me feel a bit better but what also helped me was watching some videos of families with a child who had DS. Good luck to you! Let us know how it goes. Oh yeah, like you my baby was dated 1 week older than it should have been due to its size CRL 74. Really interesting. I have been looking into why that might be. I go for my 22 week scan tomorrow so very curious to see if bebby is still big or now more averagely sized.

I would also like to say thanks @SarahD19. I understand there are many types of people on here but I just wanted to let you know, I appreciate the information you have provided. That is why I found this thread so helpful to begin with! All the detailed information about people's results allowing me to compare to my own. So any extra information I welcome.

@quesera88 thank you and good luck with everything! I really hope your pregnancy goes well xx

Thanks @i3ubble and @quesera88... yep the midwife mentioned that some of the numbers are borderline so that may be throwing up these results. Plus age. I just wish they'd straight offered the NIPT test as this is v stressful.
@quesera88 you mentioned a range for the Bhcg, do you have any more info on this? I don't know what the normal range is except it should be as close to 1 as possible... I can see from this thread lots of ladies have big variations.
For me I'm going to try to concentrate on connecting with my baby during this wait. This has been a very long road for us and we're so delighted to actually be pregnant, I could really have done without this. But I suppose it will bring clarity in the end. Thanks ladies!

@WaitingWaiting1 my understanding is that age 41 you would standardly have a 1/70 chance of Down’s anyway which would still be classed as higher risk. That would literally be based on age alone.

Obviously there are no guarantees but your hormone levels do not look bad at all. Mine were worse than that for my pregnancies and I now have healthy babies if that is any comfort!

I’ll keep my fingers crossed that you get a low risk NIPT and the reassurance you are looking for x

Thanks @SarahD19 yes exactly! I was always starting from a high risk position. The midwife says its quite rare that they improve enough to move you out of the high risk bracket (1:150) at my age. Which begs the question why did I get this test on the first place if other testing was always a very real possibility!! Anyway, just some gripes on this particular NHS process and obv specific to my age range!

Yes it is comforting to know you have healthy babies so thanks for that. I'm guessing we are different ages though? And yea my bloods kind of look ok, which is my its frustrating this algorithm is so mysterious, no one can really say what's bringing back any particular results.... Anyway, I will try to relax. 96% ish all OK!

@WaitingWaiting1 Sorry you’re going through this; although it is important to remember there can be advantages outside of the trisomy detection for the NHS Screening. As for instance in my case the serum markers aspect meant I could take aspirin to aid placental function (my Papp- A was about a 10th of what it should have been). Also research suggests that this aspect can also help reduce risk of preeclampsia for example - improving outcomes for mothers and babies.

Honestly as our demographic is changing more women are having babies older and the NIPT test in these instances helps to compliment the NHS Combined Screening. I think more should be done to support women in your situation and normalise that you expect a higher risk result - but actually odds of a healthy pregnancy are still good.

It is important to remember that even your “higher risk” screening result so far is saying you’ve a 96% chance of baby not being impacted. In any other context we’d say these are wonderful odds. However I know in this situation it is hard to see it that way xx

Yep that's a really good point re markers for other conditions. Obviously I'm just seeing this through my own lens but I'm glad it helped get you extra support. Yes there is more that could be ease predictable anxiety of certain demographics. I am keeping the 96% to the fore, thanks for your words x

Hi All

My eFTS at 13 weeks resulted in 1/4 t21. I’m 34.

HCG - 6.86
PAPPA - .24
NT was normal, can’t recall the number at the moment.

Waiting in NIPT but was recommended amnio so I have that scheduled in 2 days.

I’m trying to see all sides of this and it’s all very stressful.

Cross your fingers for me everything is normal.

Good luck. Normal NT is a really positive sign. I'll keep everything crossed that your baby is healthy. The waiting is really hard, take good care of yourself.

@JaiPow I wish you all the best, and praying for you that your baby is healthy.
Please keep us updated about your NIPT and Amnio.
Please don't stress and keep praying that everything is fine.
Don't forget that a normal NT is a good sign.
Good luck Xx

My test results from NIPT came back this morning low risk. I cannot tell you the relief, thanks for all the support on here it really helped with the anxiety. Wishing everyone who is waiting a quick and positive outcome x

@WaitingWaiting1
Really happy for you, congratulations.
Enjoy the rest of your pregnancy xx

@i3ubble thanks for your post. My numbers are similar and I’m really hoping for the same outcome. The waiting is so overwhelming.

@WaitingWaiting1 so thrilled for your NIPT results.

@Mummy825 thank you so much for your prayers 💕